Perrault syndrome 6

A Perrault syndrome that is characterized by sensorineural deafness in both males and females, with females also presenting with ovarian dysgenesis resulting in amenorrhea and infertility and that has_material_basis_in homozygous mutation in the ERAL1 gene on

A Perrault syndrome that is characterized by sensorineural deafness in both males and females, with females also presenting with ovarian dysgenesis resulting in amenorrhea and infertility and that has_material_basis_in homozygous mutation in the ERAL1 gene on chromosome 17q11.

Signs and symptoms

• Hypoplasia of the uterus
• Sensorineural hearing impairment
• Streak ovary
• Premature ovarian insufficiency
• Secondary amenorrhea
• Irregular menstruation
• Primary amenorrhea